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Fryns syndrome: Case report and review of the literature

✍ Scribed by Gulseren Yucesoy; Yigit Cakiroglu; Eray Caliskan

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 155 KB
Volume: 36
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.20409

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✦ Synopsis

Abstract

Fryns syndrome (FS) is a rare malformation. We report a case of FS referred to our clinic at 27 weeks' gestation with a diagnosis of congenital diaphragmatic hernia. Sonographic examination of the fetus revealed a left‐sided diaphragmatic hernia, pulmonary hypoplasia, and a median orofacial cleft. The diagnosis of FS was made after exclusion of chromosome aberrations and delivery of the fetus. Macroscopic inspection revealed a coarse face (hypertelorism and broad and flat nasal bridge, anteverted nostrils, median cleft lip/palate, poorly shaped auricles with attached earlobes, facial hirsutism), a narrow thorax, nail hypoplasia, and hypoplastic, widely spaced nipples. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008

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